Results 141 to 150 of about 293,138 (336)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong   +7 more
wiley   +1 more source

Optimization of bioactive compounds extraction from Rosa canina L. pseudofruit through the action of two hydrolytic enzyme preparations

open access: yesJournal of Chemical Technology &Biotechnology, EarlyView.
Abstract BACKROUND The pseudo‐fruit of Rosa canina L. is a rich source of bioactive compounds with antioxidant, anti‐inflammatory, anti‐cancer, anti‐diabetic, anti‐aging, and antimicrobial activities. The aim of the present study is the optimization of a green process based on the action of two hydrolytic enzyme preparations, namely Pectinex® Ultra ...
Zafeiria Lemoni   +6 more
wiley   +1 more source

Association Between Gas‐Free Cerebrovascular Reactivity (CVR) and Cognitive Function in Older Adults With a High Risk for Vascular Dementia

open access: yesJournal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Vascular cognitive impairment and dementia (VCID) is the second leading cause of dementia. Cerebrovascular reactivity (CVR) is a promising biomarker for VCID. However, CVR is not commonly measured in clinical practice due to logistical difficulties in applying a hypercapnia challenge during MR imaging. Purpose To investigate whether
Fariba Badrzadeh   +5 more
wiley   +1 more source

Enteral and intravenous supplementation of arginine and citrulline fail to prevent necrotizing enterocolitis in preterm neonatal pigs

open access: yesJournal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Necrotizing enterocolitis (NEC) is the most common gastrointestinal emergency in preterm infants with a morality rate that approaches 50%. Arginine has been widely studied in the field of clinical nutrition as a supplement for patients experiencing critical illness because it can be metabolized into nitric oxide, an important agent ...
Caitlin Vonderohe   +9 more
wiley   +1 more source

Executive Function and Entrepreneurial Opportunity Exploitation Under Risk and Uncertainty

open access: yesStrategic Change, EarlyView.
ABSTRACT This study examines how executive functions shape entrepreneurial opportunity exploitation under different knowledge environments. Drawing on Knight's distinction between risk and uncertainty, we conducted a vignette experiment with 200 working adults.
Ipek Koparan   +3 more
wiley   +1 more source

Caffeine editorial [PDF]

open access: yesSeminars in Fetal and Neonatal Medicine, 2020
openaire   +2 more sources

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